Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement.

AUTOR(ES)

Tharapel, A T

RESUMO

The occurrence of mosaic Down's syndrome with two independent Robertsonian translocation cell lines is very rare. Such a patient is reported here, in whom an unbalanced Robertsonian translocation between two chromosomes 21 was detected in the majority of cells. The patient also revealed a minor cell line with a second Robertsonian translocation involving a chromosome 21 and a 22. The chromosome translocations detected in this patient were de novo in origin.

Documentos Relacionados

• Down's syndrome associated with two Robertsonian translocations, 45,XX,−15,−21,+t(15q21q) and 46,XX,−21,+t(21q21q)
• Parental mosaicism in de novo translocation (21q21q) Down's syndrome.
• Down's Syndrome with 47,XX,+21/47,XX,+mar Mosaicism
• Sibship (21q21q) Translocation Down's Syndrome with Maternal Transmission
• Karyotype 45,XX,−21/46,XX,21q− in an infant with symptoms of G-deletion syndrome I